Variant report

Variant	rs11075146
Chromosome Location	chr16:12817663-12817664
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12816095..12818356-chr16:12821426..12824308,2	MCF-7	breast:
2	chr16:12810060..12812444-chr16:12816737..12818922,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11075143	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11075147	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11643593	1.00[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12051156	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12051450	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12149028	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12596748	0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12596977	0.93[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12599004	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12600294	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13330825	0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1864022	0.96[CEU][hapmap]
rs2865611	1.00[CEU][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2865615	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34146397	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34483764	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34614954	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35325147	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35908509	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36067604	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4483832	0.92[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4780474	0.87[ASN][1000 genomes]
rs4781323	0.96[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4781324	0.85[CEU][hapmap]
rs4781328	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4781329	0.87[ASN][1000 genomes]
rs4781330	0.87[ASN][1000 genomes]
rs55670507	0.86[AMR][1000 genomes]
rs56085920	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7198235	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7202365	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8055630	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8056851	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8057200	0.92[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8058253	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8059402	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs8182206	0.89[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs8182207	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs9930978	1.00[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1053617	chr16:12730958-12871639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv869284	chr16:12735729-13533462	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1052802	chr16:12766360-12964248	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1036493	chr16:12817416-12881078	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12753400-12836000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr16:12758400-12818200	Weak transcription	Left Ventricle	heart
3	chr16:12758600-12822400	Weak transcription	HSMMtube	muscle
4	chr16:12797600-12823200	Weak transcription	Primary T cells from cord blood	blood
5	chr16:12798400-12825800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr16:12798600-12822800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:12798600-12825800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:12798600-12836800	Weak transcription	Placenta	Placenta
9	chr16:12798800-12826600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:12799000-12820200	Weak transcription	Ovary	ovary
11	chr16:12799000-12823600	Weak transcription	Adipose Nuclei	Adipose
12	chr16:12799200-12821400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:12799400-12823000	Weak transcription	Fetal Intestine Large	intestine
14	chr16:12803800-12822400	Weak transcription	Spleen	Spleen
15	chr16:12806200-12818000	Weak transcription	Lung	lung
16	chr16:12808800-12817800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr16:12809200-12821800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr16:12810800-12818200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:12812000-12817800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:12812600-12823200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr16:12813200-12826200	Strong transcription	HepG2	liver
22	chr16:12813400-12822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:12814000-12826200	Weak transcription	Brain Angular Gyrus	brain
24	chr16:12814200-12825600	Weak transcription	Liver	Liver
25	chr16:12814600-12825600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:12815200-12817800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:12815400-12818200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:12815400-12818400	Enhancers	Brain Substantia Nigra	brain
29	chr16:12815600-12818200	Enhancers	Brain Cingulate Gyrus	brain
30	chr16:12815800-12818600	Enhancers	Brain Hippocampus Middle	brain
31	chr16:12816000-12817800	Enhancers	Brain Anterior Caudate	brain
32	chr16:12816000-12822400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:12816200-12818400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr16:12816400-12818200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr16:12817000-12817800	Enhancers	Esophagus	oesophagus
36	chr16:12817000-12818200	Enhancers	HSMM	muscle
37	chr16:12817000-12818400	Strong transcription	Aorta	Aorta
38	chr16:12817200-12818400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr16:12817400-12818200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:12817400-12818200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:12817600-12817800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:12817600-12817800	ZNF genes & repeats	Fetal Stomach	stomach
43	chr16:12817600-12818000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:12817600-12818200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:12817600-12818400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:12817600-12818400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:12817600-12821400	Weak transcription	Fetal Intestine Small	intestine

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